Question 1

what tests are done to diagnose marfan syndrome?

Accepted Answer

Multiple : There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation.

Question 2

is it true you can be classed as disabled if you have marfan syndrome?

Accepted Answer

Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website).

Question 3

does aneuploidy cause marfan syndrome?

Accepted Answer

Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis).

Question 4

why are patients with marfan syndrome body thin?

Accepted Answer

: The genetic mutations change the way how the affected patient's body develops.

Question 5

could i detect marfan syndrome before or after birth?

Accepted Answer

Yes, prenatally: Prenatal diagnosis of Marfan syndrome is possible through DNA testing of fetal tissue obtained by chorionic villi sampling or amniocentesis.

Question 6

how does marfan syndrome affect the heart?

Accepted Answer

Aorta Dilitation: Marfan's syndrome is a congenital abnormality which can lead to an abnormality in the lining of the aorta or problems with heart valves.  The most common abnormality is a dilatation of the ascending aorta which can lead to an aneurysm as well a a backward leak of the aortic valve.  An echocardiogram helps make the diagnosis.  If the he problem is severe it can be corrected surgically.

Question 7

why do people with marfan syndrome develop scoliosis?

Accepted Answer

Connective tisssue: Marfans syndrome is a genetic condition that affects the body's connective tissue. The development of scoliosis in marfan's is caused by abnormally loose ligaments of the spine and rapid growth of children with marfan's.

Question 8

what's the difference between marfan syndrome and eds?

Accepted Answer

Stature and heart: Marfans people are tall, skinny, with valve problems, joint instability, but also have aortic problems. Ehlers danlos  has hypermobility, subluxations, but also certain types of eds have tissue fragility, spontaneous pneumothorax, joint subluxation, and has difficulty healing.

Question 9

can a person who has marfan syndrome still grow muscle?

Accepted Answer

Yes: Marfan syndrome patients can have mild to severe symptoms. Their muscles can grow, but there may be weakness in the connective tissues that help support the muscles and attach muscles to other parts of the body.

Question 10

i have scoliosis, does that mean i also have marfan syndrome?

Accepted Answer

No,: Marfan's is diagnosed using major and minor criteria: major (enlarged aorta/ tear, dislocation of lens of the eye, specific skeletal abnormalities, dural ectasia. Minor (myopia, stretch marks, loose joints, arched palate, long thin face)  if family history is positive, you need to have 1 major and one minor criteria. If no family history you need 2 major and 1 minor criteria/ different parts /body.

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What tests are done to diagnose marfan syndrome?

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Does aneuploidy cause marfan syndrome?

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Why are patients with marfan syndrome body thin?

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Could i detect marfan syndrome before or after birth?

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How does marfan syndrome affect the heart?

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Why do people with marfan syndrome develop scoliosis?

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What's the difference between marfan syndrome and eds?

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Can a person who has marfan syndrome still grow muscle?

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I have scoliosis, does that mean i also have marfan syndrome?

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